Developmental Disorders of the Nervous System Group

The Developmental Disorders of the Nervous System group headed by Prof. Dr. Markus Schülke-Gerstenfeld investigates genetic causes of congenital developmental disorders of the nervous system. These include various forms of epilepsy as well as diseases of the mitochondria (power stations of the cells), the nerves (neuropathies), and the muscles (myopathies). The group’s aim is to uncover new pathomechanisms and to use this knowledge to develop treatment methods. To achieve this, emphasis is placed on close links, cooperation, and efficient channels of communication between patient care, clinical research, and laboratory work.

Research focus

Many control genes are involved in the development of the brain, and these must be switched on and off at the right time for nerve cells to find the right connections (synapses) with each other. A dysfunction in such genes can lead to epilepsies, autism or mental disability. In addition, other genes are important for the maturation (myelination) of the central and peripheral pathways. If genes that play an important role in this process are disrupted, patients often suffer from muscle weakness, muscle atrophy, or impairments in balancing and walking (ataxia). All of the diseases named above are rare and occur in the population with a frequency under one in every two thousand people. With techniques for reading genetic information (sequencing) there has been increasing success in tracing the genetic causes of such diseases and in understanding the mechanisms by which the diseases arise. This understanding provides the vital pre-condition for developing cause-based treatments. Furthermore, the discovery of a genetic defect makes it possible to give genetic counseling to families with affected children and to offer pre-natal testing if there is a continued wish to have children.

Group leader

Prof. Dr. Markus Schülke-Gerstenfeld
Markus Schülke-Gerstenfeld is Professor of Experimental Neuropediatrics at the Charité. He studied medicine at Homburg (Saar), Berlin, Dublin, and Hong Kong. After clinical activities at the University Children's Clinic Cologne, in Allahabad (India), and a visiting research fellowship at the Nijmegen Center for Mitochondrial Disorders (Netherlands), Markus Schülke-Gerstenfeld started his work at the Charité in 1995. Since 1999 he has been a specialist in pediatrics (additional designation "neuropediatrics" since 2007) and senior physician at the Clinic for Pediatrics with a special focus in neurology at the Charité Campus Virchow. In his work, Professor Schülke-Gerstenfeld combines medical expertise with biochemical and molecular genetic research. The focus of his research is mainly on genetically caused childhood diseases, especially developmental disorders of the central and peripheral nervous system and neuromuscular diseases.